mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for GPT2
Gene summary
Basic gene Info.Gene symbolGPT2
Gene nameglutamic pyruvate transaminase (alanine aminotransferase) 2
SynonymsALT2
CytomapUCSC genome browser: 16q12.1
Type of geneprotein-coding
RefGenesNM_001142466.1,
NM_133443.2,
DescriptionGPT 2alanine aminotransferase 2glutamate pyruvate transaminase 2glutamic--alanine transaminase 2glutamic--pyruvic transaminase 2glutamic-pyruvate transaminase 2
Modification date20141207
dbXrefs MIM : 138210
HGNC : HGNC
Ensembl : ENSG00000166123
HPRD : 06307
Vega : OTTHUMG00000132541
ProteinUniProt: Q8TD30
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GPT2
BioGPS: 84706
PathwayNCI Pathway Interaction Database: GPT2
KEGG: GPT2
REACTOME: GPT2
Pathway Commons: GPT2
ContextiHOP: GPT2
ligand binding site mutation search in PubMed: GPT2
UCL Cancer Institute: GPT2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:00061032-oxoglutarate metabolic process11863375
GO:0042851L-alanine metabolic process11863375


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Ligand binding site mutations for GPT2

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
V301V301ELUSC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for GPT2
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
V301V301E-1.8037385
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for GPT2 from PDB

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Differential gene expression and gene-gene network for GPT2
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of GPT2 and the right PPI network was created from samples without mutations in the LBS of GPT2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for GPT2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for GPT2

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00114Pyridoxal PhosphateSmall molecule
NutraceuticalDB00142L-Glutamic AcidSmall molecule
Approved|nutraceuticalDB00160L-AlanineSmall molecule
ApprovedDB00780PhenelzineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GPT2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PLPPYRIDOXAL 5'-PHOSPHATE3ihjAV301


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Conservation information for LBS of GPT2
Multiple alignments for Q8TD30 in multiple species
LBSAA sequence# speciesSpecies
A187YLTTGASDGIS2Homo sapiens, Mus musculus
A187YLTSGASHAAR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A187FLTDGASPAVH1Arabidopsis thaliana
A187FMTDGASPGVH1Arabidopsis thaliana
A187FLTAGASAAVN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D299LFLLADEVYQD2Homo sapiens, Mus musculus
D299LVLLADEVYQE2Arabidopsis thaliana, Arabidopsis thaliana
D299IVLLADEVYQN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D299TVVIADEVYQE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G186IYLTTGASDGI2Homo sapiens, Mus musculus
G186IYLTSGASHAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G186IFLTDGASPAV1Arabidopsis thaliana
G186IFMTDGASPGV1Arabidopsis thaliana
G186IFLTAGASAAV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I267KVLCIINPGNP2Homo sapiens, Mus musculus
I267RLCVVINPGNP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I267RALVVINPGNP1Arabidopsis thaliana
I267RALAVINPGNP1Arabidopsis thaliana
I267TVLVVINPGNP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K341FHSTSKGYMGE2Homo sapiens, Mus musculus
K341FQSVSKGYYGE2Arabidopsis thaliana, Arabidopsis thaliana
K341VNSVSKGQFGE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K341LHSTSKGVSGE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N271IINPGNPTGQV2Homo sapiens, Mus musculus
N271VINPGNPTGQV2Arabidopsis thaliana, Arabidopsis thaliana
N271VINPGNPTGAC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N271VINPGNPTGAV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R350GECGYRGGYME2Homo sapiens, Mus musculus
R350GECGKRGGYME2Arabidopsis thaliana, Arabidopsis thaliana
R350GECGQRGGYLD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R350GECGQRGGYME1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S188LTTGASDGIST2Homo sapiens, Mus musculus
S188LTSGASHAARL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S188LTDGASPAVHM1Arabidopsis thaliana
S188MTDGASPGVHM1Arabidopsis thaliana
S188LTAGASAAVNY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S338LASFHSTSKGY2Homo sapiens, Mus musculus
S338LVSFQSVSKGY2Arabidopsis thaliana, Arabidopsis thaliana
S338LISVNSVSKGQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S338LASLHSTSKGV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V301LLADEVYQDNV2Homo sapiens, Mus musculus
V301LLADEVYQENV2Arabidopsis thaliana, Arabidopsis thaliana
V301LLADEVYQNNI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V301VIADEVYQENI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y216IPIPQYPLYSA2Homo sapiens, Mus musculus
Y216VPAPQYPLYGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y216SPIPQYPLYSA1Arabidopsis thaliana
Y216CPIPQYPLYSA1Arabidopsis thaliana
Y216IPIPQYPLYTA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y302LADEVYQDNVY2Homo sapiens, Mus musculus
Y302LADEVYQENVY2Arabidopsis thaliana, Arabidopsis thaliana
Y302LADEVYQNNIY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y302IADEVYQENIF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)


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